Canonical Allele Identifier: CA2573143987

Gene: ENG

Linked Data

• ClinVar Variation Id: 1357796
• ClinVar RCV Id: RCV001878459
• dbSNP Id: rs2131885883

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824362dup , CM000671.2:g.127824362dup	GRCh38
NC_000009.11:g.130586641dup , CM000671.1:g.130586641dup	GRCh37
NC_000009.10:g.129626462dup	NCBI36
NG_009551.1:g.35407dup , LRG_589:g.35407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.530dup	ENSP00000479015.1:p.Gln178ProfsTer?
ENST00000373203.9:c.1076dup MANE Select	ENSP00000362299.4:p.Gln360ProfsTer?
ENST00000344849.4:c.1076dup	ENSP00000341917.3:p.Gln360ProfsTer?
ENST00000373203.8:c.1076dup	ENSP00000362299.4:p.Gln360ProfsTer?
ENST00000480266.5:c.530dup	ENSP00000479015.1:p.Gln178ProfsTer?
ENST00000486329.1:n.44dup
NM_000118.3:c.1076dup , LRG_589t1:c.1076dup	NP_000109.1:p.Gln360ProfsTer?
NM_001114753.2:c.1076dup , LRG_589t2:c.1076dup	NP_001108225.1:p.Gln360ProfsTer?
NM_001278138.1:c.530dup	NP_001265067.1:p.Gln178ProfsTer?
NM_001114753.3:c.1076dup MANE Select	NP_001108225.1:p.Gln360ProfsTer?
NM_001278138.2:c.530dup	NP_001265067.1:p.Gln178ProfsTer?